Article
The rigid spine syndrome: a vacuolar variant.
Muscle & nerve - 1 May 1993
Lotz B P, Stübgen J P
Abstract excerpt
The rigid spine syndrome encompasses a number of disorders. We report 7 males and 2 females with this phenotype and a single, not previously reported, nosology. The salient muscle histological features were autophagic vacuoles, vacuoles containing capillaries, muscle spindle swelling, and type I fiber predominance. Disease onset was before age 6 years in all patients. Inheritance was probably autosomal recessive...
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